Details

Autor(en) / Beteiligte

• Ndiaye, Rokhaya
• Diop, Jean Pascal Demba
• Bourdon-Huguenin, Violaine
• Dem, Ahmadou
• Diouf, Doudou
• Dieng, Mamadou Moustapha
• Diop, Pape Saloum
• Kane Gueye, Serigne Modou
• Ba, Seydi Abdoul
• Dia, Yacouba
• Ka, Sidy
• Mbengue, Babacar
• Thiam, Alassane
• Sylla Niang, Maguette
• Gueye, Papa Madieye
• Faye, Oumar
• Lopez Sall, Philomene
• Cisse, Aynina
• Diop, Papa Amadou
• Sobol, Hagay
• Dieye, Alioune

Titel

Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal

Ist Teil von

• Npj genomic medicine, 2020-01, Vol.5 (1), p.8-8, Article 8

Ort / Verlag

London: Nature Publishing Group UK

Erscheinungsjahr

2020

Quelle

Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals

Beschreibungen/Notizen

• BRCA1 and BRCA2 are the most incriminated genes in inherited breast/ovarian cancers. Several pathogenic variants of these genes conferring genetic predisposition have been described in different populations but rarely in sub-Saharan Africa. The objectives of this study were to identify pathogenic variants of the BRCA genes involved in hereditary breast cancer in Senegal and to search for a founder effect. We recruited after free informed consent, 27 unrelated index cases diagnosed with breast cancer and each having a family history. Mutation screening of the genes identified a duplication of ten nucleotides c.815_824dupAGCCATGTGG, (p.Thr276Alafs) (NM_007294.3) located in exon 11 of BRCA1 gene, in 15 index cases (allelic frequency 27.7%). The pathogenic variant has been previously reported in African Americans as a founder mutation of West African origin. Haplotypes analysis of seven microsatellites surrounding the BRCA1 gene highlights a shared haplotype encompassing ~400 kb between D17S855 and D17S1325. This haplotype was not detected in none of 15 healthy controls. Estimation of the age of the pathogenic variant suggested that it occurred ~1400 years ago. Our study identified a founder pathogenic variant of BRCA1 predisposing to breast cancer and enabled the establishment of an affordable genetic test as a mean of prevention for Senegalese women at risk.